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Rader - Figure 18 - Inhibition of PCSK9 might be optimal therapy for reducing LDL in patients with gain-of-function PCSK9 mutations

Given this etiology of the hypercholesterolemia, a conceptual case can be made that people who have this mutation might experience optimal results with therapy targeting PCSK9 inhibition with, for example, an antibody.  Again, these are relatively rare patients, but by identifying them through genotyping, it should be possible to directly target treatment with a PCSK9 inhibitor, once these are available.
Rader J Clin Lipidol. 2012;
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